A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013970



Internal ID19103189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248497239..248631151hg38UCSC Ensembl
Innerchr1:248660540..248794452hg19UCSC Ensembl
Innerchr1:246727163..246861075hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38133913
hg19133913
hg18133913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv618n100
Supporting Variantsnssv3496159
Samples
Known GenesOR2G6, OR2T10, OR2T11, OR2T29, OR2T34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013970
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer